Expanded Carrier Screening in gamete donation identifies clinically relevant donor-recipient genetic incompatibilities
In brief
Expanded screening found shared carrier findings in 26% to 44% of donor-ART couples
In this retrospective cohort of 250 couples using donor-assisted fertility treatment, expanded carrier screening identified shared carrier findings in 26% to 44% of those matched using the test. The findings do not all represent clinically meaningful risks: added value beyond standard donor screening depends on the condition and which genes and variants were already assessed, requiring gene-level data to clarify its benefit.
- Journal
- Journal of assisted reproduction and genetics (Q1)
- Published
- 29 October 2026
- Study design
- Retrospective cohort
- Evidence level
- Level 3, Low (CEBM 3b)
- Authors
- Rossella Fucci, Asia Iserani, Irene Oliva, Laura Badolato, Denise De Angelis, Ilaria Cianchi, et al.
- PMID
- 42957965
- DOI
- 10.1007/s10815-026-04066-y
Why clinicians should know about it
- Picked for Genetics (clinical) (paper of the day, 2 November 2026): Expanded carrier screening informs donor-recipient reproductive risk assessment
Abstract
PURPOSE: Most individuals carry pathogenic variants associated with autosomal recessive disorders. In donor-assisted Assisted Reproductive Technology (ART), broader carrier screening may identify additional donor-recipient genetic risks beyond standard donor screening. This study evaluated the frequency of donor-recipient shared carrier findings identified through Expanded Carrier Screening (ECS) and explored their potential clinical relevance. METHODS: In this retrospective cohort study, 250 couples undergoing donor-assisted ART between January 2022 and September 2025 were analyzed. The cohort included 220 oocyte donation cycles (88%), 20 sperm donation cycles (8%), and 10 double-donation cycles (4%). 1 ECS was used to assess carrier status and donor-recipient genetic compatibility according to the study's recorded matching criteria. All participants received pre-test genetic counseling. RESULTS: The use of ECS increased markedly over the study period. A donor-recipient shared carrier status was identified in 26-44% of couples undergoing ECS-based donor-recipient matching. Shared carrier status was observed in 35% of sperm-donation, 24% of oocyte donation, and 20% of double-donation cycles (p > 0.05). The probability of incompatibility increased with increasing individual pathogenic variant burden (p < 0.05), reaching 40-50% in individuals carrying two to four pathogenic variants before ECS-based donor matching. CONCLUSION: ECS identified a substantial proportion of donor-recipient shared carrier findings. However, the clinical relevance and incremental contribution of ECS beyond standard donor screening depend on the specific condition and the genes and variants already assessed in the donor. These findings support the use of ECS as a broader approach to reproductive risk assessment, while highlighting the need for gene-level matching data to quantify its incremental clinical utility.
Abstract as published, via PubMed.
For healthcare professionals. The summary is generated by AI from the published abstract, and the evidence level is assigned automatically from the study design on the Oxford CEBM hierarchy. Neither is medical advice. Read the full paper before changing practice.